O52: Diagnostic benefits of long-read genome sequencing for short-read negative rare disease cases

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Bibliographic Details
Main Authors: Alan Beggs, Tina Truong, Wanqing Shao, Bryan Leland, Kshitij Amar, Mehmet Bugrahan Duz, Nathaniel Edisis, Casie Genetti, Médéric Jeanne, Pratiksha Pradhan, Priyesh Rughani, Luca Schierbaum, Shirlee Shril, Rebecca Stubbs, Malika Sud, Kenney Tuyen, Carly Tyer, Talia Tzadikario, Scott Hickey, Sissel Juul, Piotr Sliz, Monica Wojcik, Friedhelm Hildebrandt, Catherine Brownstein, Miten Jain, Wendy Chung
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425005187
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